Regional choroidal thickness estimation from color fundus images based on convolutional neural networks.

Purpose: This study aims to estimate the regional choroidal thickness from color fundus images from convolutional neural networks in different network structures and task learning models. Method: 1276 color fundus photos and their corresponding choroidal thickness values from healthy subjects were obtained from the Topcon DRI Triton optical coherence tomography machine. Initially, ten commonly used convolutional neural networks were deployed to identify the most accurate model, which was subsequently selected for further training. This selected model was then employed in combination with single-, multiple-, and auxiliary-task training models to predict the average and sub-region choroidal thickness in both ETDRS (Early Treatment Diabetic Retinopathy Study) grids and 100-grid subregions. The values of mean absolute error and coefficient of determination (R2) were involved to evaluate the models' performance. Results: Efficientnet-b0 network outperformed other networks with the lowest mean absolute error value (25.61 µm) and highest R2 (0.7817) in average choroidal thickness. Incorporating diopter spherical, anterior chamber depth, and lens thickness as auxiliary tasks improved predicted accuracy (p-value = 6.39×10-44, 2.72×10-38, 1.15×10-36 respectively). For ETDRS regional choroidal thickness estimation, multi-task model achieved better results than single task model (lowest mean absolute error = 31.10 µm vs. 33.20 µm). The multi-task training also can simultaneously predict the choroidal thickness of 100 grids with a minimum mean absolute error of 33.86 µm. Conclusions: Efficientnet-b0, in combination with multi-task and auxiliary task models, achieve high accuracy in estimating average and regional macular choroidal thickness directly from color fundus photographs.

Translation and validation to Portuguese of a 60-item questionnaire to evaluate theoretical knowledge in fundus examination / Tradução e validação para o português de um questionário de 60 itens para avaliação do conhecimento teórico no exame de fundo de olho

ABSTRACT Purpose: To translate and validate a questionnaire that evaluates the theoretical knowledge regarding fundus examination. Methods: A 60-item multiple-choice English questionnaire that investigates various aspects of knowledge regarding fundus examination was translated into Portuguese. The process involved translation, back-translation, and evaluation by an expert committee. The resulting questionnaire was applied to final-year medical students and ophthalmology residents. Each included subject answered the questionnaire twice, with an interval of one week between each application. Internal consistency, test-retest reliability, inter-rater reliability, and percentage agreement were calculated. Results: Thirty participants were included (25 medical students and 5 ophthalmology residents). The pass-fail cutoff was calculated at 46, the theoretical false positives were 8.7% and the theoretical false negatives were 2.8%. The observed false positive and false negative rates were 0%. Among the 60 items, test-retest reliability was strong in 17 items, which one had a negative correlation, moderate in 14 items, which one had a negative correlation, and weak in 29 items; inter-rater reliability of 34 items was under 0.4, 17 items were between 0.4 and 0.6, and 8 items were above 0.6. One item had a negative kappa. Among the percent agreement, 10 items were between 40%-60% agreement, 50 were above 60% agreement, and 18 were above 80%. Cronbach's alpha was calculated as 0.674. Conclusions: The translated questionnaire provided a standard instrument for future research and interventions to improve medical education in ophthalmology.

RESUMO Objetivos: Traduzir e validar para o português um questionário para avaliar o conhecimento teórico no exame de fundo de olho. Métodos: Um questionário de múltipla escolha de 60 questões em inglês, ao qual avalia diversos aspetos do conhecimento no exame de fundo de olho, foi traduzido para o português. O processo envolveu uma tradução, re-tradução e avaliação por um comitê de especialistas. O questionário resultante foi aplicado em estudantes de medicina do último ano e médicos-residentes em oftalmologia. Cada indivíduo respondeu o questionário duas vezes, com um intervalo de uma semana entre cada aplicação. A consistência interna, a confiança teste-reteste, a confiança entre avaliadores e a porcentagem de concordâncias foram calculadas. Resultados: Trinta participantes foram incluídos (25 estudantes de medicina e 5 residentes em oftalmologia). A nota de corte para aprovação-reprovação foi calculada em 46, sendo os falsos positivos teóricos de 8,7% e os falsos negativos teóricos 2,8%. No mesmo corte, os falsos positivos e falsos negativos observados foi de 0%. Dentre os 60 itens, a confiança teste-reteste foi forte em 17 itens, sendo que um apresentou uma correlação negativa, moderada em 14 itens, sendo que um apresentou uma correlação negativa, e fraca em 29 itens; a confiança inter-examinador foi inferior a 0,4 em 34 itens, entre 0,4 e 0,6 em 17 itens, e acima de 0,6 em 8 itens. Um dos itens apresentou um valor negativo. A porcentagem de concordância foi entre 40-60% em 10 itens, superior a 60% em 50 itens e acima de 80% em 18 itens. O alfa de Crombach foi calculado com 0,674. Conclusões: O questionário traduzido propicia um instrumento padronizado para futuras pesquisas e intervenções às quais visem aprimorar o ensino em oftalmologia.

Performance analysis of pretrained convolutional neural network models for ophthalmological disease classification / Análise de desempenho de modelos de rede neural convolucional pré-treinados para classificação de doenças oftalmológicas

ABSTRACT Purpose: This study aimed to evaluate the classification performance of pretrained convolutional neural network models or architectures using fundus image dataset containing eight disease labels. Methods: A publicly available ocular disease intelligent recognition database has been used for the diagnosis of eight diseases. This ocular disease intelligent recognition database has a total of 10,000 fundus images from both eyes of 5,000 patients for the following eight diseases: healthy, diabetic retinopathy, glaucoma, cataract, age-related macular degeneration, hypertension, myopia, and others. Ocular disease classification performances were investigated by constructing three pretrained convolutional neural network architectures including VGG16, Inceptionv3, and ResNet50 models with adaptive moment optimizer. These models were implemented in Google Colab, which made the task straight-forward without spending hours installing the environment and supporting libraries. To evaluate the effectiveness of the models, the dataset was divided into 70%, 10%, and 20% for training, validation, and testing, respectively. For each classification, the training images were augmented to 10,000 fundus images. Results: ResNet50 achieved an accuracy of 97.1%; sensitivity, 78.5%; specificity, 98.5%; and precision, 79.7%, and had the best area under the curve and final score to classify cataract (area under the curve = 0.964, final score = 0.903). By contrast, VGG16 achieved an accuracy of 96.2%; sensitivity, 56.9%; specificity, 99.2%; precision, 84.1%; area under the curve, 0.949; and final score, 0.857. Conclusions: These results demonstrate the ability of the pretrained convolutional neural network architectures to identify ophthalmological diseases from fundus images. ResNet50 can be a good architecture to solve problems in disease detection and classification of glaucoma, cataract, hypertension, and myopia; Inceptionv3 for age-related macular degeneration, and other disease; and VGG16 for normal and diabetic retinopathy.

RESUMO Objetivo: Avaliar o desempenho de classificação de modelos ou arquiteturas de rede neural convolucional pré--treinadas usando um conjunto de dados de imagem de fundo de olho contendo oito rótulos de doenças diferentes. Métodos: Neste artigo, o conjunto de dados de reconhecimento inteligente de doenças oculares publicamente disponível foi usado para o diagnóstico de oito rótulos de doenças diferentes. O banco de dados de reconhecimento inteligente de doenças oculares tem um total de 10.000 imagens de fundo de olho de ambos os olhos de 5.000 pacientes para oito categorias que contêm rótulos saudáveis, retinopatia diabética, glaucoma, catarata, degeneração macular relacionada à idade, hipertensão, miopia, outros. Investigamos o desempenho da classificação de doenças oculares construindo três arquiteturas de rede neural convolucional pré-treinadas diferentes, incluindo os modelos VGG16, Inceptionv3 e ResNet50 com otimizador de Momento Adaptativo. Esses modelos foram implementados no Google Colab o que facilitou a tarefa sem gastar horas instalando o ambiente e suportando bibliotecas. Para avaliar a eficácia dos modelos, o conjunto de dados é dividido em 70% para treinamento, 10% para validação e os 20% restantes utilizados para teste. As imagens de treinamento foram expandidas para 10.000 imagens de fundo de olho para cada tal. Resultados: Observou-se que o modelo ResNet50 alcançou acurácia de 97,1%, sensibilidade de 78,5%, especificidade de 98,5% e precisão de 79,7% e teve a melhor área sob a curva e pontuação final para classificar a categoria da catarata (área sob a curva=0,964, final=0,903). Em contraste, o modelo VGG16 alcançou uma precisão de 96,2%, sensibilidade de 56,9%, especificidade de 99,2% e precisão de 84,1%, área sob a curva 0,949 e pontuação final de 0,857. Conclusão: Esses resultados demonstram a capacidade das arquiteturas de rede neural convolucional pré-treinadas em identificar doenças oftalmológicas a partir de imagens de fundo de olho. ResNet50 pode ser uma boa solução para resolver problemas na detecção e classificação de doenças como glaucoma, catarata, hipertensão e miopia; Inceptionv3 para degeneração macular relacionada à idade e outras doenças; e VGG16 para retinopatia normal e diabética.

Effects of pupil dilation with topical 0.5% tropicamide on retinal vascular parameters assessed by VAMPIRE® software in healthy cats.

Our study investigates the effects of mydriasis obtained with topical 0.5% tropicamide on retinal vascular parameters evaluated in cats using the retinal imaging software: Vascular Assessment and Measurement Platform for Images of the Retina (VAMPIRE®). Forty client-owned healthy adult cats were included in the study. Topical 0.5% tropicamide was applied to dilate only the right pupil. The left eye was used as a control. Before dilation (T0), infrared pupillometry of both pupils was performed and fundus oculi images were taken from both eyes. Right eye fundus images were then captured 30 min after topical application of tropicamide (T30), when mydriasis was achieved. The retinal vessel widths (3 arteries and 3 veins) were measured with VAMPIRE® in four standard measurement areas (SMA) identified with the letters A, B, C, D. Average value of the 3 vessel widths was used. After normality assessment, the t-test was used to analyse the mean difference in vascular parameters of the left and right eyes at T0 and T30, with p set <0.05. The two eyes showed no statistical differences in pupil and vascular parameter measurements at T0. At T30, only one artery measurement of the right eye (SMA A-peripapillary area) showed a small but statistically significant mean vasoconstriction of approximately 4%. The results indicate that local application of 0.5% tropicamide seems to be associated with a small retinal arteriolar vasoconstriction as assessed by VAMPIRE® in cats. However, this change is minimal, and should not affect the interpretation of the results when VAMPIRE® is used.

El fondo de ojo, una ventana a la microvasculatura del paciente hipertenso / The fundus, a window to microvasculature in hypertensive patients

Introducción: La hipertensión arterial constituye una de las enfermedades más frecuentes en la población general. En la actualidad llega a una prevalencia global del 30 al 45 %. La microcirculación retiniana puede considerarse como una representación anatómica de las características fisiológicas y funcionales de la circulación coronaria y cerebral. Objetivos: Profundizar en la relación existente entre los niveles de presión arterial y el daño del órgano diana, específicamente a través del fondo de ojo, así como de las posibles complicaciones oftalmológicas derivadas de la hipertensión arterial, y la comparación de algunas de las clasificaciones existentes sobre los cambios oftalmológicos que esta provoca. Métodos: Se emplearon los métodos de análisis-síntesis y análisis bibliográfico y documental. Los motores de búsqueda utilizados fueron: Google y Google Académico, y las bases de datos Hinari, SciELO Cuba, Pubmed, entre otras. Conclusiones: La retinopatía hipertensiva es una de las complicaciones adversas de la hipertensión arterial aguda o crónica. Por su parte, las oclusiones venosas y la formación de macroaneurismas, constituyen otras de gran envergadura. Mientras más eficaz sea el diagnóstico y seguimiento de los pacientes hipertensos, menos recursos se necesitarán para su tratamiento, y se evitarán así las complicaciones de otros órganos diana como el cerebro y el riñón, lo que provocaría en los pacientes una mayor discapacidad.

Introduction: arterial hypertension is one the most frequent diseases in general population. Nowadays, it reaches a global prevalence of 30 to 45 %. Retinal microcirculation can be considered as an anatomical representation of the physiological and functional characteristics of the coronary and cerebral circulation. Objectives: to delve into the relationship between blood pressure levels and target organ damage, specifically through the fundus, as well as the possible ophthalmological complications derived from arterial hypertension, and the comparison of some of the existing classifications on the ophthalmological changes that it causes. Methods: analysis - synthesis and bibliographic- documentary analyses were the used methods. Google and Google Scholar as well as Hinari, SciELO Cuba, Pubmed and others databases were the search engines. Conclusions: hypertensive retinopathy is one of the adverse complications of acute or chronic arterial hypertension. On the other hand, venous occlusions and the formation of macroaneurysms constitute other serious ones to consider. The more effective the diagnosis and follow-up of hypertensive patients, the fewer resources will be needed for their treatment, thus avoiding complications in other target organs such as the brain and kidney, which would cause greater disability in patients.

Mapeamento de retina nas interconsultas oftalmológicas: um estudo transversal e epidemiológico em um hospital de referência do estado de São Paulo / Indirect ophthalmoscopy in ophthalmological interconsultations: a cross-sectional and epidemiological study in a reference hospital in the state of São Paulo

RESUMO Objetivo Avaliar os mapeamentos de retina realizados em interconsultas oftalmológicas, analisando as prevalências de alterações encontradas e comparando-as com o motivo da interconsulta. Métodos Estudo transversal, com dados encontrados durante exame de mapeamento de retina de pacientes internados ou em atendimento no pronto-socorro. Os dados analisados de cada paciente foram idade, sexo, especialidade médica solicitante, motivo da interconsulta e achados do exame fundoscópico. Resultados Foram avaliados 104 pacientes, com prevalência de alterações ao exame em 43,27%. Os motivos mais frequentes de solicitação de avaliação oftalmológica foram trauma (16,35%) e alterações neurológicas (15,38%). O achado com maior prevalência foi o edema de papila, presente em 17,3% das avaliações gerais. Outros achados muito prevalentes foram as retinopatias diabética e hipertensiva, ambas com 11,53% na avaliação geral, mas com 83,3% e 53,84% de prevalência nos pacientes cujos motivos da consulta foram diabetes mellitus descompensada e crise hipertensiva, respectivamente. Conclusão O edema de papila e as retinopatias diabética e hipertensiva foram as alterações mais prevalentes, o que demonstra a importância do atendimento multidisciplinar sempre que possível, com maior atenção aos pacientes hipertensos e diabéticos.

ABSTRACT Objective To evaluate the indirect ophthalmoscopy performed in ophthalmologic consultations, analyzing the prevalence of the study and comparing them with the reason for the consultation. Methods Cross-sectional study, with data found during the indirect ophthalmoscopy exam of inpatients or in emergency room care. The data analyzed for each patient was sex, the requested medical age, the reason for the consultation and the funduscopic examination findings. Results One hundred and four patients were evaluated and 43.27% of patients with a prevalence of changes in the exam. The most requested reasons for requesting ophthalmologic evaluation were trauma (16.35%) and neurological alterations (15.38%). The most prevalent finding was papillary edema, representing 17.3% of the general estimates. Other very prevalent findings were diabetic and hypertensive retinopathies, both with 11.53% in the general assessment, but with 83.3% and 53.84% prevalence in patients whose reasons for consultation were decompensated DM and hypertensive crisis, respectively. Conclusions Papillary edema and diabetic and hypertensive retinopathies were the most prevalent alterations, which demonstrates the importance of multidisciplinary care whenever possible, with greater attention to hypertensive and diabetic patients.

Risk factors for ophthalmologic involvement and ocular findings in patients diagnosed with fungemia in a high-complexity hospital in the city of Medellín, Colombia.

PURPOSE: To describe the demographic clinical characteristics and to identify the risk factors of patients diagnosed with fungemia and secondary intraocular involvement. METHODS: Retrospective cohort of 97 patients diagnosed with fungemia and with or without involvement of the posterior segment. Demographic, clinical and ophthalmological variables were identified to establish the risk of retinal seeding. RESULTS: An incidence of ocular involvement of 22.68% was obtained and no clear risk factor was found for subsequent showings in patients with fungemia. A risk trend was only found in patients with diabetes with an OR: 2.85; CI 95%: (0.80-10.12) and history of HIV with an OR: 2.29 CI95%: (0.85-6.12). CONCLUSIONS: In this first cohort carried out in Colombia according to our search, findings were obtained that agree with those of other authors worldwide, where there is no evidence of a decrease in incidence compared with older studies and the absence of risk factors for the compromise of the posterior pole in patients with fungemia.KEY MESSAGESSystematic fundus evaluation by an ophthalmologist in patients with candidaemia is a recommended practice based on low-quality evidence.The identification of real risk factors for retinal compromise in fungemia would allow us to be more selective with the population to be evaluated.Fungemia generally occurs in critically ill patients, where access and availability of ophthalmology evaluation are a resource that is not always available.

Arterial Hypertension and the Hidden Disease of the Eye: Diagnostic Tools and Therapeutic Strategies.

Hypertension is a major cardiovascular risk factor that is responsible for a heavy burden of morbidity and mortality worldwide. A critical aspect of cardiovascular risk estimation in hypertensive patients depends on the assessment of hypertension-mediated organ damage (HMOD), namely the generalized structural and functional changes in major organs induced by persistently elevated blood pressure values. The vasculature of the eye shares several common structural, functional, and embryological features with that of the heart, brain, and kidney. Since retinal microcirculation offers the unique advantage of being directly accessible to non-invasive and relatively simple investigation tools, there has been considerable interest in the development and modernization of techniques that allow the assessment of the retinal vessels' structural and functional features in health and disease. With the advent of artificial intelligence and the application of sophisticated physics technologies to human sciences, consistent steps forward have been made in the study of the ocular fundus as a privileged site for diagnostic and prognostic assessment of diverse disease conditions. In this narrative review, we will recapitulate the main ocular imaging techniques that are currently relevant from a clinical and/or research standpoint, with reference to their pathophysiological basis and their possible diagnostic and prognostic relevance. A possible non pharmacological approach to prevent the onset and progression of retinopathy in the presence of hypertension and related cardiovascular risk factors and diseases will also be discussed.

Manejo del desprendimiento de retina regmatógeno / Management of rhegmatogenous retinal detachment

1. INTRODUCCIÓN El desprendimiento de retina es un problema visual grave que puede ocurrir a cualquier edad, aunque suele darse en individuos de edad media o en personas de la tercera edad. La incidencia es relativamente baja considerando que las estima-ciones varían según zonas geográficas; y, se han reportado datos de entre 6,3 y 17,9 por 100 000 habitantes. Otras características im-portantes a considerar son la degeneración en encaje de 45,75% y la miopía de 47,28% que influyen en la presentación del desprendi-miento de retina. Al mismo tiempo que la edad, los cambios vítreos retinianos y la presencia de pseudofaquia1,2. Además, de los factores oculares relacionados también influyen, el seguimiento inadecuado de los factores de riesgo y el difícil acceso a médicos especialistas que se traduce en retraso en el diagnóstico certero y tratamiento tardío que implica deterioro del pronóstico visual cuando el área macular está incluida en el área desprendida con pobres resultados en adultos jóvenes y en edad productiva.El tratamiento evitará el deterioro o pérdida irreversible de la visión. El pronóstico con tratamiento quirúrgico es bueno si el des-prendimiento no incluye a la mácula.

1. INTRODUCTIONRetinal Detachment is a serious visual problem that can occur at any age, although it usually occurs in middle-aged or elderly in-dividuals. The incidence is relatively low considering that estimates vary ac-cording to geographical areas; and, data have been reported be-tween 6,3 and 17,9 per 100 000 inhabitants. Other important cha-racteristics to consider are socket degeneration of 45,75% and myopia of 47,28% that influence the presentation of retinal deta-chment, as well as age, vitreoretinal changes and the presence of pseudophakia1,2.In addition to the related ocular factors, inadequate follow-up of risk factors and difficult access to medical specialists also play a role, resulting in delayed accurate diagnosis and late treatment that implies deterioration of the visual prognosis when the macular area is included in the detached area with poor results in young adults and those of productive age.Treatment will prevent irreversible deterioration or loss of vision. The prognosis with surgical treatment is good if the detachment does not include the macula.

Fundoscopy use in neurology departments and the utility of smartphone photography: a prospective prevalence and crossover diagnostic accuracy study amongst neurology inpatients.

BACKGROUND AND PURPOSE: Although fundoscopy is a crucial part of the neurological examination, it is challenging, under-utilized and unreliably performed. The aim was to determine the prevalence of fundus pathology amongst neurology inpatients and the diagnostic accuracy of current fundoscopy practice compared with systematic screening with smartphone fundoscopy (SF) and portable non-mydriatic fundus photography (NMFP). METHODS: This was a prospective cross-sectional surveillance and diagnostic accuracy study on adult patients admitted under neurology in an Australian hospital. Inpatients were randomized to initial NMFP (RetinaVue 100, Welch Allyn) or SF (D-EYE) followed by a crossover to the alternative modality. Images were graded by neurology doctors, using telemedicine consensus neuro-ophthalmology NMFP grading as the reference standard. Feasibility parameters included ease, comfort and speed. RESULTS: Of 79 enrolled patients, 14.1% had neurologically relevant pathology (seven, disc pallor; one, hypertensive retinopathy; three, disc swelling). The neurology team performed direct ophthalmoscopy in 6.6% of cases and missed all abnormalities. SF had a sensitivity of 30%-40% compared with NMFP (45.5%); however, it had a lower rate of screening failure (1% vs. 13%, p < 0.001), a shorter examination time (1.10 vs. 2.25 min, p < 0.001) and a slightly higher patient comfort rating (9.2 vs. 8/10, p < 0.001). CONCLUSION: Our study demonstrates a clinically significant prevalence of fundus pathology amongst neurology inpatients which was missed by current fundoscopy practices. Portable NMFP screening appears more accurate than SF, whilst both are diagnostically superior to routine fundoscopic practice, feasible and well tolerated by patients.

Impact on patient management of non-mydriatic fundus photography compared to direct ophthalmoscopy in a regional Australian emergency department.

OBJECTIVE: To investigate the management impact of non-mydriatic fundus photography (NMFP) implementation for appropriate ED patients; compare the diagnostic accuracy of direct ophthalmoscopy (DO) and NMFP, and determine the prevalence of fundus pathology in a regional Australian ED. METHODS: This before/after crossover study prospectively enrolled patients presenting with headache, neurological deficit, visual disturbance and/or hypertensive urgency. Patients received DO examination, then separate NMFP examination. Emergency clinicians (ECs) were surveyed on their patient management plans following both DO examination and NMFP imaging. Telemedicine review of NMFP images was performed by an ophthalmologist within 48 h, and any additional management changes were documented. RESULTS: The use of NMFP influenced changes in management in 52 (39%) of 133 enrolled patients (95% confidence interval 31-48%). Of these, 65% were escalations of management due to acute fundus pathology, while 35% were de-escalating changes following normal fundus findings. ECs diagnostic accuracy for acute fundus pathology improved from 0% to 29% sensitivity, and 59% to 84% specificity using DO and NMFP respectively, and telemedicine registrar review increased this to 50% sensitivity and 86% specificity. The period prevalence of acute fundus pathology was 10.5% (95% confidence interval 6-17%). CONCLUSION: The addition of NMFP images can significantly impact the management of ED patients requiring fundus examination, facilitating expedited and optimised patient care. NMFP improves ECs diagnostic acumen for fundus pathology over DO examination and telehealth specialist review is important for diagnostic accuracy. There is a clinically important prevalence of fundus pathology in this regional ED setting.

Using non-mydriatic fundus photography to detect fundus pathology in Australian metropolitan emergency departments: A prospective prevalence and diagnostic accuracy study.

OBJECTIVE: To determine the prevalence of fundus pathology in metropolitan Australian EDs utilising a non-mydriatic fundus photography screening programme. Secondary objectives include diagnostic accuracy among emergency physicians compared to telehealth ophthalmologist review. METHODS: Prospective cross-sectional study investigating non-mydriatic fundus photography as a new diagnostic test in two tertiary Australian EDs. Consecutive adult patients were enrolled if they presented with headache, focal neurological deficit, visual disturbance or diastolic BP >120 mmHg. Diagnostic agreement was determined using kappa statistics and sensitivity and specificity using a reference standard consensus ophthalmology review. RESULTS: A total of 345 consecutive patients were enrolled among whom 56 (16%, 95% confidence interval [CI] 13-21) had urgent fundus pathology. Agreement between emergency physician and ophthalmic assessment of fundus photographs was 74% (kappa = 0.196, P = 0.001). Emergency physicians had 40% sensitivity (95% CI 27-54) and 82% specificity (95% CI 76-86) for detecting urgent pathology on photographs. CONCLUSIONS: Fundus photography detects a clinically significant proportion of fundus pathology and urgent diagnoses. Telehealth specialist image review is important to detect some important, time-critical illnesses that can be missed in routine care. This offers an accurate alternative to direct ophthalmoscopy that warrants further research in Australian EDs.

Analysis of ocular clinical features and gene mutations of Waardenburg syndrome / 中华眼底病杂志

Objective:To deeply explore the clinical features and gene mutations of Waardenburg syndrome (WS) by tested of the eyes and genes of three patients.Methods:A Case series study. From 2019 to 2021, 3 children with WS who were diagnosed at Department of Ophthalmology, West China Hospital of Sichuan University were included in the study. Among them, there were 2 males and 1 female; the ages were 3, 4, and 12 months, respectively. All children underwent external eye, anterior segment, fundus and fluorescein fundus angiography, the clinical features of the eyes were observed. The peripheral venous blood of 3 children was collected, and the whole genome DNA was extracted for whole exome sequencing to analyze the gene mutation sites.Results:All children had different degrees of iris heterochromia and fundus pigment abnormalities, and were accompanied by sensorineural hearing impairment. Case 1 had dystopia canthorum; case 2 had macular fovea hypoplasia. The sequencing results of case 1 showed that there were large fragments of heterozygous deletion in exons 2-8 of the Paired box 3 ( PAX3) gene, who was diagnosed as WS Ⅰ type. The sequencing results of of case 2 showed heterozygous mutation in exon 9 of Microphthalmia-associated transcription factor ( MITF) gene (c.1066 C >T), combined with heterozygous mutation in exon 1 of HPS6 gene (c.1417 G> T), who was diagnosed as WS Ⅱ type. The sequencing result of case 3 showed that the exon 3 of SOX10 gene had loss of heterozygosity (c.497_500 delAAGA), who was diagnosed as WS Ⅳ type. Both PAX3 and SOX10 gene mutations were newly discovered mutations. Conclusions:The ocular clinical features of Waardenburg syndrome include hypopigmentation of the iris and choroid, and dystopia canthorum, etc. Early screening of the eye and hearing will help to better diagnose the disease. The large fragments of heterozygous deletion in exons 2-8 of the PAX3 gene, the heterozygous mutation in exon 9 of MITF gene (c.1066 C> T), and the loss of heterozygosity in exon 3 of SOX10 gene are pathogenic genetic variations of 3 children.

[Fundus imaging features of purified protein derivative and T-spot positive tubercular serpiginous-like choroiditis].

Objective: To summarize the clinical and fundus imaging features of purified protein derivative and T-spot positive tubercular serpiginous-like choroiditis (PTP-SLC) patients. Methods: This retrospective study consecutively enrolled 13 PTP-SLC patients (21 eyes) in Beijing Tongren Hospital from November 2015 to November 2017. There were 8 males and 5 females with an average age of (45.2±12.1) years. Medical history and results of systemic and ophthalmological examinations, such us fundus autofluorescence photography, optical coherence tomography (OCT), fluorescein fundus angiography (FFA) and indocyanine green angiography, were evaluated. Results: Eight patients had binocular disease with an average interval time of (8.4±7.9) years. The average visual acuity of all patients was 0.3, and 4 patients had a clear history of exposure to tuberculosis. The active lesions in the PTP-SLC patients were homogeneous and creamish-yellow with unclear boundaries. Fundus autofluorescence showed an ill-defined, diffuse hyperautofluorescent zone. OCT showed punctate hyperreflexes between the choroidal stroma, destruction of the outer retinal structure with intraretinal edema and discrete vitreal hyper-reflective spots. FFA showed hypofluorescence in the active lesion at early stage and diffuse hyperfluorescence with leakage. Indocyanine green angiography showed persistent hypofluorescence. Conclusions: PTP-SLC fundus lesions are mainly manifested as homogeneous creamish-yellow lesions with unclear boundaries and high in autofluorescence. The involvement of the choroid and the outer layer of the retina can be observed on OCT. FFA can find more retinal vascular inflammatory changes. It is difficult to distinguish PTP-SLC from serpiginous choroiditis simply based on clinical and epidemiological characteristics. The pathogenic examination of tuberculosis is still the key to differential diagnosis (Chin J Ophthalmol, 2020, 56: 914-919).

[Development and application of a fundus image quality assessment system based on computer vision technology].

Objective: To develop a fundus image quality assessment system based on computer vision technology and to verify its accuracy by comparing the results of artificial discrimination and using this system. Methods: The process of image evaluation was divided into four modules: fundus image preprocessing, fundus image quality evaluation, fundus image content detection and evaluation result output. The system was designed to automatically evaluate the image quality of each fundus image, identify the optic disc and macula, and judge whether the image was qualified or not according to the image quality discrimination rules. A total of 2 397 fundus images of 787 type 2 diabetes patients were selected as the test data set. The average age of the patients, including 384 males and 403 females, was (69.65±19.09) years old. The images were taken by the staff of community health service centers in Shanghai with a fundus camera. The fundus image quality assessment system was used to conduct quality control and classification of the data set. At the same time, 12 professional fundus picture readers were employed to conduct manual quality control and classification of this data set. The system quality control results and artificial quality discrimination results were compared and analyzed. Results: The fundus image quality assessment system automatically recognized left and right eyes and eye positions on the input fundus images. The quality control interface included four indicator lights, which respectively corresponded to the images with the optic disc or macula as the center of the left or right eye. Evaluation of each fundus image was completed within 1 second, and the results were automatically displayed on the user interface. The 2 397 fundus photos were identified manually as 1 846 qualified photos and 551 unqualified photos. Among the unqualified images, 62 (11.27%) were too dark, 51 (9.27%) were too bright, 59 (10.73%) were not clear in the macular area, 36 (6.54%) showed no macula or optic disc, 125 (22.73%) could not present the fundus structure, 175 (31.82%) were blurred, and 42 (7.64%) were blocked. The results of the system and manual assessment were consistent in 1 788 qualified images (96.86%) and 550 unqualified images (99.82%), with an overall consistency rate of 97.54%. Conclusion: The fundus image quality assessment system can achieve highly consistent results with the professional judgment of ophthalmologists and has the characteristics of objectivity. (Chin J Ophthalmol, 2020, 56:920-927).

[A summary of ocular fundus diseases in China over the past 70 years].

After 70 years of development, China has become a global leader in the academic research and clinical practice of fundus diseases. The dramatic progress is mainly attributable to the relentless efforts of generations of fundus ophthalmologists. We are moving forward to incorporate new technologies such as AI and big data into the treatment of fundus diseases. The summary is intended to commemorate the past masters and to inspire the young ophthalmologists. We would like to send congratulations on the 70th anniversary of Chinese Journal of Ophthalmology with this article. (Chin J Ophthalmol, 2020, 56:241-245).

[Strengthening the understanding of the pathological evolution of myopia].

The concern of high myopia in adolescents is increasingly prominent, because of the high prevalence and early onset of myopia in younger children. High myopia increases the risk of various fundus complications, resulting in serious damage to the vision of the working population. The mechanisms underlying the fundus pathology in high myopia remain unknown, although some studies have indicated the initial thinning of the choroid during the myopia progression might count a lot. The thinning of the choroid would influence the blood supply of the retina and sclera and accelerate the progression of myopia to high myopia, inducing the pathologic changes of the fundus. Since the treatment for pathological myopia is limited and cannot reverse the already existed visual impairment, preventive measures are necessary, including the attempts to delay the onset of myopia, to retard progression from mild myopia to high myopia and to retard the pathological changes of high myopia. Future researches should strengthen the understanding of the characteristics of pathologic changes of myopia, establish a predictive index system and a health management system to monitor early pathological changes, and promote early detection and intervention, so as to prevent fundus complications related to high myopia in multiple ways and avoid blindness and visual impairment caused by pathological fundus changes of myopia. (Chin J Ophthalmol, 2019, 55:721-725).

[The consistency of ultra-wide-field retinal imaging and the Superfield lens for fundus screening in HIV/AIDS patients].

Objective: To screen the retinopathy in HIV/AIDS patients with both non-mydriatic ultra-wide-field (UWF) retinal imaging and mydriatic fundus examinations with the Superfield lens and a slit lamp biomicroscope, and to evaluate the consistency of two methods and provide reference for future clinical screening work and even technological innovation (such as telemedicine screening and artificial intelligence). Methods: Cross sectional study. One hundred and fifty-eight eyes of 80 HIV-positive patients from the Ophthalmology Department of Beijing Youan Hospital were enrolled in this prospective observational study. All patients underwent comprehensive ophthalmological examination. A single image was obtained from each eye using the UWF fundus imaging system (Daytona, Optos, Dunfermline, UK), and then a dilated fundal examination with the Superfield lens was conducted by another expert. The possible type and location of the lesion with these two methods was recorded respectively. The consistency was compared using the detection rate and Kappa value. Results: Fifty-two patients (65%) had fundus changes, and 28 patients (35%) were normal. Seventy-nine eyes (50%) were normal and 79 eyes (50%) had fundus lesions. Sixty-one eyes (77.2%) had HIV-related fundus lesions, while 18 eyes (22.8%) had non-HIV-related fundus lesions. Fifty-two eyes (65.8%) suffered posterior or posterior involving lesions, and 27 eyes (34.2%) suffered isolated peripheral lesions. The detection rate of UWF retinal imaging and slit lamp biomicroscopy with the Superfield lens was 17.7% (28/158) and 18.4% (29/158) (P=1.000>0.05) for HIV-related microvascular retinopathy, 8.2% and 8.2% (13/158) (χ(2)=158.00, P=1.000) for cytomegalovirus retinitis (CMVR), 36.1% and 36.1% (57/158) (χ(2)=71.066, P=1.000) for HIV-related fundus lesions, 41.8% (66/158) and 47.5% (75/158) (χ(2)=63.514, P=0.136) for fundus lesions, 33.5% (53/158) and 31.0% (49/158) (χ(2)=108.268, P=0.388) for posterior/posterior involving lesions, and 6.4% (10/158) and 16.5% (26/158) (χ(2)=42.001, P=0.000) for isolated peripheral lesions, respectively. In general, the consistency of these two methods was moderate in detecting fundus lesions (Kappa=0.630), HIV-related fundus lesions (Kappa=0.671), HIV-related microvascular retinopathy (Kappa=0.551), and isolated peripheral lesions (Kappa=0.450). According to the fundus location, the two methods showed high consistency in the detection of posterior/posterior involving lesions (Kappa=0.826>0.75) and perfect consistency for CMVR (Kappa=1.0). Conclusions: The UWF retinal imaging system and the Superfield lens showed reasonable consistency in fundus screening in HIV/AIDS patients, especially for CMVR, or lesions in the posterior pole. (Chin J Ophthalmol, 2019, 55:763-768).

Disc-foveal angle and ocular counterrolling as a key in its interpretation. / El ángulo papila-fóvea y la torsión ocular compensatoria, clave en su interpretación.

PURPOSE: Describe a time-sparing technique to measure disc-foveal angle (DFA), determine normal values and its role when analyzing paired fundus photographs. METHODS: DFA was analysed using the software program Keynote v.6.2.2 on 440 fundus photographs (3D OCT 2000, Topcon Corporation, Tokio, Japan) of 20 individuals. The 11 different head positions were determined with the cervical range of motion device (CROM, Performance Attainment Associates). A reproducibility and correlation study between two fundus cameras (OCT 3D-2000 and TRC-50EX, Topcon Corporation, Tokio, Japan) was performed. RESULTS: Mean DFA of the right and left eye was 5.5±3.4° and 8.6±2.9°, with a difference of 3.1° (P=0.001 Wilcoxon signed-rank test) in the upright head position. Mean absolute difference in DFA between eyes was 3.5±2.6°; an increase was seen with increasing head tilt (P=0.000 Wilcoxon signed-rank test). Mean sum of DFA in both eyes was 14.1±5.4°. On head-tilt of 20° and 40° to the right, mean ocular counterrolling (OCR) was 7.1° and 12.2° in the right eye and 7.7° and 12.1° in the left eye. On head-tilt of 20° and 40° to the left, OCR was 4.4° and 8° in the right eye and 4.2° and 8.7° in the left eye (P=0.000 Wilcoxon signed-rank test). The two cameras showed strong correlation and high reproducibility. CONCLUSIONS: Our DFA measurement technique is time-sparing and reproducible. Left eye shows higher DFA than right eye. OCR occurs only in the roll plane. This information is of value when analyzing paired fundus photographs.